ClinVar Miner

Submissions for variant NM_181303.2(NLGN3):c.1600C>T (p.Pro534Ser)

dbSNP: rs1569485503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV000778067 SCV000902438 pathogenic Autistic behavior; Intellectual disability 2019-05-07 criteria provided, single submitter research Overexpression experiments in HEK293 and HeLa cell lines revealed that this variant affects the level of the mature NLGN3 protein, its localization at the plasma membrane and its presence as a cleaved form in the extracellular environment. The variant also induces an Unfolded Protein Response (UPR), probably due to the retention of immature NLGN3 protein in the endoplasmic reticulum.

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